| E70 | Disorders of aromatic amino-acid metabolism |
| E70.0 | Classical phenylketonuria |
| E70.1 | Other hyperphenylalaninemias |
| E70.2 | Disorders of tyrosine metabolism |
| E70.20 | Disorder of tyrosine metabolism, unspecified |
| E70.21 | Tyrosinemia |
| E70.29 | Other disorders of tyrosine metabolism |
| E70.3 | Albinism |
| E70.30 | Albinism, unspecified |
| E70.31 | Ocular albinism |
| E70.310 | X-linked ocular albinism |
| E70.311 | Autosomal recessive ocular albinism |
| E70.318 | Other ocular albinism |
| E70.319 | Ocular albinism, unspecified |
| E70.32 | Oculocutaneous albinism |
| E70.320 | Tyrosinase negative oculocutaneous albinism |
| E70.321 | Tyrosinase positive oculocutaneous albinism |
| E70.328 | Other oculocutaneous albinism |
| E70.329 | Oculocutaneous albinism, unspecified |
| E70.33 | Albinism with hematologic abnormality |
| E70.330 | Chediak-Higashi syndrome |
| E70.331 | Hermansky-Pudlak syndrome |
| E70.338 | Other albinism with hematologic abnormality |
| E70.339 | Albinism with hematologic abnormality, unspecified |
| E70.39 | Other specified albinism |
| E70.4 | Disorders of histidine metabolism |
| E70.40 | Disorders of histidine metabolism, unspecified |
| E70.41 | Histidinemia |
| E70.49 | Other disorders of histidine metabolism |
| E70.5 | Disorders of tryptophan metabolism |
| E70.8 | Other disorders of aromatic amino-acid metabolism |
| E70.81 | Aromatic L-amino acid decarboxylase deficiency |
| E70.89 | Other disorders of aromatic amino-acid metabolism |
| E70.9 | Disorder of aromatic amino-acid metabolism, unspecified |
| E71 | Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism |
| E71.0 | Maple-syrup-urine disease |
| E71.1 | Other disorders of branched-chain amino-acid metabolism |
| E71.11 | Branched-chain organic acidurias |
| E71.110 | Isovaleric acidemia |
| E71.111 | 3-methylglutaconic aciduria |
| E71.118 | Other branched-chain organic acidurias |
| E71.12 | Disorders of propionate metabolism |
| E71.120 | Methylmalonic acidemia |
| E71.121 | Propionic acidemia |
| E71.128 | Other disorders of propionate metabolism |
| E71.19 | Other disorders of branched-chain amino-acid metabolism |
| E71.2 | Disorder of branched-chain amino-acid metabolism, unspecified |
| E71.3 | Disorders of fatty-acid metabolism |
| E71.30 | Disorder of fatty-acid metabolism, unspecified |
| E71.31 | Disorders of fatty-acid oxidation |
| E71.310 | Long chain/very long chain acyl CoA dehydrogenase deficiency |
| E71.311 | Medium chain acyl CoA dehydrogenase deficiency |
| E71.312 | Short chain acyl CoA dehydrogenase deficiency |
| E71.313 | Glutaric aciduria type II |
| E71.314 | Muscle carnitine palmitoyltransferase deficiency |
| E71.318 | Other disorders of fatty-acid oxidation |
| E71.32 | Disorders of ketone metabolism |
| E71.39 | Other disorders of fatty-acid metabolism |
| E71.4 | Disorders of carnitine metabolism |
| E71.40 | Disorder of carnitine metabolism, unspecified |
| E71.41 | Primary carnitine deficiency |
| E71.42 | Carnitine deficiency due to inborn errors of metabolism |
| E71.43 | Iatrogenic carnitine deficiency |
| E71.44 | Other secondary carnitine deficiency |
| E71.440 | Ruvalcaba-Myhre-Smith syndrome |
| E71.448 | Other secondary carnitine deficiency |
| E71.5 | Peroxisomal disorders |
| E71.50 | Peroxisomal disorder, unspecified |
| E71.51 | Disorders of peroxisome biogenesis |
| E71.510 | Zellweger syndrome |
| E71.511 | Neonatal adrenoleukodystrophy |
| E71.518 | Other disorders of peroxisome biogenesis |
| E71.52 | X-linked adrenoleukodystrophy |
| E71.520 | Childhood cerebral X-linked adrenoleukodystrophy |
| E71.521 | Adolescent X-linked adrenoleukodystrophy |
| E71.522 | Adrenomyeloneuropathy |
| E71.528 | Other X-linked adrenoleukodystrophy |
| E71.529 | X-linked adrenoleukodystrophy, unspecified type |
| E71.53 | Other group 2 peroxisomal disorders |
| E71.54 | Other peroxisomal disorders |
| E71.540 | Rhizomelic chondrodysplasia punctata |
| E71.541 | Zellweger-like syndrome |
| E71.542 | Other group 3 peroxisomal disorders |
| E71.548 | Other peroxisomal disorders |
| E72 | Other disorders of amino-acid metabolism |
| E72.0 | Disorders of amino-acid transport |
| E72.00 | Disorders of amino-acid transport, unspecified |
| E72.01 | Cystinuria |
| E72.02 | Hartnup's disease |
| E72.03 | Lowe's syndrome |
| E72.04 | Cystinosis |
| E72.09 | Other disorders of amino-acid transport |
| E72.1 | Disorders of sulfur-bearing amino-acid metabolism |
| E72.10 | Disorders of sulfur-bearing amino-acid metabolism, unspecified |
| E72.11 | Homocystinuria |
| E72.12 | Methylenetetrahydrofolate reductase deficiency |
| E72.19 | Other disorders of sulfur-bearing amino-acid metabolism |
| E72.2 | Disorders of urea cycle metabolism |
| E72.20 | Disorder of urea cycle metabolism, unspecified |
| E72.21 | Argininemia |
| E72.22 | Arginosuccinic aciduria |
| E72.23 | Citrullinemia |
| E72.29 | Other disorders of urea cycle metabolism |
| E72.3 | Disorders of lysine and hydroxylysine metabolism |
| E72.4 | Disorders of ornithine metabolism |
| E72.5 | Disorders of glycine metabolism |
| E72.50 | Disorder of glycine metabolism, unspecified |
| E72.51 | Non-ketotic hyperglycinemia |
| E72.52 | Trimethylaminuria |
| E72.53 | Primary hyperoxaluria |
| E72.59 | Other disorders of glycine metabolism |
| E72.8 | Other specified disorders of amino-acid metabolism |
| E72.81 | Disorders of gamma aminobutyric acid metabolism |
| E72.89 | Other specified disorders of amino-acid metabolism |
| E72.9 | Disorder of amino-acid metabolism, unspecified |
| E73 | Lactose intolerance |
| E73.0 | Congenital lactase deficiency |
| E73.1 | Secondary lactase deficiency |
| E73.8 | Other lactose intolerance |
| E73.9 | Lactose intolerance, unspecified |
| E74 | Other disorders of carbohydrate metabolism |
| E74.0 | Glycogen storage disease |
| E74.00 | Glycogen storage disease, unspecified |
| E74.01 | von Gierke disease |
| E74.02 | Pompe disease |
| E74.03 | Cori disease |
| E74.04 | McArdle disease |
| E74.09 | Other glycogen storage disease |
| E74.1 | Disorders of fructose metabolism |
| E74.10 | Disorder of fructose metabolism, unspecified |
| E74.11 | Essential fructosuria |
| E74.12 | Hereditary fructose intolerance |
| E74.19 | Other disorders of fructose metabolism |
| E74.2 | Disorders of galactose metabolism |
| E74.20 | Disorders of galactose metabolism, unspecified |
| E74.21 | Galactosemia |
| E74.29 | Other disorders of galactose metabolism |
| E74.3 | Other disorders of intestinal carbohydrate absorption |
| E74.31 | Sucrase-isomaltase deficiency |
| E74.39 | Other disorders of intestinal carbohydrate absorption |
| E74.4 | Disorders of pyruvate metabolism and gluconeogenesis |
| E74.8 | Other specified disorders of carbohydrate metabolism |
| E74.81 | Disorders of glucose transport, not elsewhere classified |
| E74.810 | Glucose transporter protein type 1 deficiency |
| E74.818 | Other disorders of glucose transport |
| E74.819 | Disorders of glucose transport, unspecified |
| E74.89 | Other specified disorders of carbohydrate metabolism |
| E74.9 | Disorder of carbohydrate metabolism, unspecified |
| E75 | Disorders of sphingolipid metabolism and other lipid storage disorders |
| E75.0 | GM2 gangliosidosis |
| E75.00 | GM2 gangliosidosis, unspecified |
| E75.01 | Sandhoff disease |
| E75.02 | Tay-Sachs disease |
| E75.09 | Other GM2 gangliosidosis |
| E75.1 | Other and unspecified gangliosidosis |
| E75.10 | Unspecified gangliosidosis |
| E75.11 | Mucolipidosis IV |
| E75.19 | Other gangliosidosis |
| E75.2 | Other sphingolipidosis |
| E75.21 | Fabry (-Anderson) disease |
| E75.22 | Gaucher disease |
| E75.23 | Krabbe disease |
| E75.24 | Niemann-Pick disease |
| E75.240 | Niemann-Pick disease type A |
| E75.241 | Niemann-Pick disease type B |
| E75.242 | Niemann-Pick disease type C |
| E75.243 | Niemann-Pick disease type D |
| E75.244 | Niemann-Pick disease type A/B |
| E75.248 | Other Niemann-Pick disease |
| E75.249 | Niemann-Pick disease, unspecified |
| E75.25 | Metachromatic leukodystrophy |
| E75.26 | Sulfatase deficiency |
| E75.29 | Other sphingolipidosis |
| E75.3 | Sphingolipidosis, unspecified |
| E75.4 | Neuronal ceroid lipofuscinosis |
| E75.5 | Other lipid storage disorders |
| E75.6 | Lipid storage disorder, unspecified |
| E76 | Disorders of glycosaminoglycan metabolism |
| E76.0 | Mucopolysaccharidosis, type I |
| E76.01 | Hurler's syndrome |
| E76.02 | Hurler-Scheie syndrome |
| E76.03 | Scheie's syndrome |
| E76.1 | Mucopolysaccharidosis, type II |
| E76.2 | Other mucopolysaccharidoses |
| E76.21 | Morquio mucopolysaccharidoses |
| E76.210 | Morquio A mucopolysaccharidoses |
| E76.211 | Morquio B mucopolysaccharidoses |
| E76.219 | Morquio mucopolysaccharidoses, unspecified |
| E76.22 | Sanfilippo mucopolysaccharidoses |
| E76.29 | Other mucopolysaccharidoses |
| E76.3 | Mucopolysaccharidosis, unspecified |
| E76.8 | Other disorders of glucosaminoglycan metabolism |
| E76.9 | Glucosaminoglycan metabolism disorder, unspecified |
| E77 | Disorders of glycoprotein metabolism |
| E77.0 | Defects in post-translational modification of lysosomal enzymes |
| E77.1 | Defects in glycoprotein degradation |
| E77.8 | Other disorders of glycoprotein metabolism |
| E77.9 | Disorder of glycoprotein metabolism, unspecified |
| E78 | Disorders of lipoprotein metabolism and other lipidemias |
| E78.0 | Pure hypercholesterolemia |
| E78.00 | Pure hypercholesterolemia, unspecified |
| E78.01 | Familial hypercholesterolemia |
| E78.1 | Pure hyperglyceridemia |
| E78.2 | Mixed hyperlipidemia |
| E78.3 | Hyperchylomicronemia |
| E78.4 | Other hyperlipidemia |
| E78.41 | Elevated Lipoprotein(a) |
| E78.49 | Other hyperlipidemia |
| E78.5 | Hyperlipidemia, unspecified |
| E78.6 | Lipoprotein deficiency |
| E78.7 | Disorders of bile acid and cholesterol metabolism |
| E78.70 | Disorder of bile acid and cholesterol metabolism, unspecified |
| E78.71 | Barth syndrome |
| E78.72 | Smith-Lemli-Opitz syndrome |
| E78.79 | Other disorders of bile acid and cholesterol metabolism |
| E78.8 | Other disorders of lipoprotein metabolism |
| E78.81 | Lipoid dermatoarthritis |
| E78.89 | Other lipoprotein metabolism disorders |
| E78.9 | Disorder of lipoprotein metabolism, unspecified |
| E79 | Disorders of purine and pyrimidine metabolism |
| E79.0 | Hyperuricemia without signs of inflammatory arthritis and tophaceous disease |
| E79.1 | Lesch-Nyhan syndrome |
| E79.2 | Myoadenylate deaminase deficiency |
| E79.8 | Other disorders of purine and pyrimidine metabolism |
| E79.9 | Disorder of purine and pyrimidine metabolism, unspecified |